Living with Okur-Chung neurodevelopmental syndrome
A genetic condition with delayed speech and development, low muscle tone, feeding difficulties, and usually mild to moderate intellectual disability.
Understanding Okur-Chung neurodevelopmental syndrome
Development is delayed in all areas, but language is usually more affected than movement skills. Low muscle tone often begins in infancy. About three quarters of people have intellectual disability, typically mild to moderate. Less common features include curved spine, short stature, sleep problems, seizures, and poor coordination.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language development
- Delayed walking and motor skills
- Low muscle tone (hypotonia)
- Feeding difficulties and slow weight gain
- Intellectual disability
- Sleep problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CSNK2A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CSNK2A1 gene cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: ocnds; okur-chung neurodevelopmental syndrome; ocnds
Patient organizations
- Simons SearchlightOkur-Chung neurodevelopmental syndrome · United States
- CSNK2A1 FoundationOkur-Chung neurodevelopmental syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Okur-Chung neurodevelopmental syndrome.
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